Canonical Allele Identifier: CA93117900
Gene:

Linked Data

dbSNP Id: rs754579044
gnomAD v2: 4-12579752-T-C
gnomAD v3: 4-12578128-T-C
gnomAD v4: 4-12578128-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.12578128T>C , CM000666.2:g.12578128T>C GRCh38
NC_000004.11:g.12579752T>C , CM000666.1:g.12579752T>C GRCh37
NC_000004.10:g.12188850T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_925406.1:n.106+31214A>G
XR_001741374.1:n.254+44527A>G
XR_925406.3:n.140+31214A>G